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https://www.readbyqxmd.com/read/29149761/crizotinib-achieves-long-lasting-disease-control-in-advanced-papillary-renal-cell-carcinoma-type-1-patients-with-met-mutations-or-amplification-eortc-90101-create-trial
#1
Patrick Schöffski, Agnieszka Wozniak, Bernard Escudier, Piotr Rutkowski, Alan Anthoney, Sebastian Bauer, Jozef Sufliarsky, Carla van Herpen, Lars H Lindner, Viktor Grünwald, Branko Zakotnik, Evelyne Lerut, Maria Debiec-Rychter, Sandrine Marréaud, Michela Lia, Tiana Raveloarivahy, Sandra Collette, Laurence Albiges
PURPOSE: Papillary renal-cell carcinoma type 1 (PRCC1) is associated with MET gene alterations. Our phase II trial prospectively assessed the efficacy and safety of crizotinib in patients with advanced/metastatic PRCC1 with or without MET mutations (MET+ and MET-). EXPERIMENTAL DESIGN: Eligible patients with reference pathology-confirmed PRCC1 received 250 mg oral crizotinib twice daily. Patients were attributed to MET+/MET- sub-cohorts by the sequencing of exons 16-19 of the MET gene in tumour tissue...
November 14, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/29149658/evaluating-casama-contextualized-semantic-maps-for-summarization-of-lung-cancer-studies
#2
Jean I Garcia-Gathright, Nicholas J Matiasz, Carlos Adame, Karthik V Sarma, Lauren Sauer, Nova F Smedley, Marshall L Spiegel, Jennifer Strunck, Edward B Garon, Ricky K Taira, Denise R Aberle, Alex A T Bui
OBJECTIVE: It is crucial for clinicians to stay up to date on current literature in order to apply recent evidence to clinical decision making. Automatic summarization systems can help clinicians quickly view an aggregated summary of literature on a topic. Casama, a representation and summarization system based on "contextualized semantic maps," captures the findings of biomedical studies as well as the contexts associated with patient population and study design. This paper presents a user-oriented evaluation of Casama in comparison to a context-free representation, SemRep...
November 3, 2017: Computers in Biology and Medicine
https://www.readbyqxmd.com/read/29148600/new-evidence-for-the-recent-divergence-of-devil-s-hole-pupfish-and-the-plausibility-of-elevated-mutation-rates-in-endangered-taxa
#3
Christopher H Martin, Sebastian Höhna
Saglam et al. (2016) recently argued that the Devil's Hole Pupfish (Cyprinodon diabolis), a conservation icon with the smallest known species range, was isolated 60 kya based on a new genomic dataset. If true, this would be a radically long timescale for any species to persist at population sizes less than 500 individuals, in contrast to conservation genetics theory. However, here we argue that their analyses and interpretation are inappropriate. They placed highly restrictive prior distributions on divergence times, which do not appropriately model the large uncertainty and result in removing nearly all uncertainty from their analyses, and chose among models by assuming that pupfishes exhibit human mutation rates...
November 17, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/29148409/a-high-and-equal-prevalence-of-the-q703k-variant-in-nlrp3-patients-with-autoinflammatory-symptoms-and-ethnically-matched-controls
#4
Merav Lidar, Yael Brantz, Yael Shinar, Haike Reznik-Wolf, Avi Livneh, Ilan Ben Zvi, Rinat Cohen, Yaakov Berkun, Philip J Hashkes, Hagit Peleg, Aharon Kessel, Gleb Slobodin, Michael Rozenbaum, Ofra Goldzweig, Elon Pras
OBJECTIVES: Cryopyrin associated periodic syndromes (CAPS) comprise a spectrum of autoinflammatory disorders of varying severity caused by mutations in the NLRP3 gene. The NLRP3-Q703K allele has been reported both as a functional polymorphism and as a low penetrance mutation. METHODS: To describe the clinical phenotype of subjects with the Q703K allele and to report the frequency of this allele among patients with autoinflammatory symptoms and healthy controls. To this end, a cohort of 10 ethnically-matched controls per each Q703K-carrying patient, was composed...
October 6, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29146706/the-clinical-and-laboratory-evaluation-of-familial-hemophagocytic-lymphohistiocytosis-and-the-importance-of-hepatic-and-spinal-cord-involvement-a-single-center-experience
#5
Burcin Beken, Selin Aytac, Gunay Balta, Baris Kuskonmaz, Duygu Uckan, Sule Unal, Mualla Cetin, Fatma Gumruk
Familial hemophagocytic lymphohistiocytosis is an autosomal recessive, life-threatening condition characterized by defective immune response. A retrospective analysis was performed on 57 patients diagnosed with familial hemophagocytic lymphohistiocytosis at Hacettepe University Pediatric Hematology Department. Mutation analysis was performed on 37 patients and of these; 11 had UNC13D, 10 had PRF1 and 3 had STX11 gene mutation. Of these patients 44% were found to have central nervous system involvement on admission and spinal cord involvement was also seen in 5 patients...
November 16, 2017: Haematologica
https://www.readbyqxmd.com/read/29146190/newly-developed-selective-immunoinactivation-assay-revealed-reduction-in-adipose-triglyceride-lipase-activity-in-peripheral-leucocytes-from-patients-with-idiopathic-triglyceride-deposit-cardiomyovasculopathy
#6
Atsuko Takagi, Yasuyuki Ikeda, Kunihisa Kobayashi, Kazuhiro Kobayashi, Yoshihiko Ikeda, Junji Kozawa, Hideyuki Miyauchi, Ming Li, Chikako Hashimoto, Yasuhiro Hara, Satoshi Yamaguchi, Akira Suzuki, Tatsushi Toda, Hironori Nagasaka, Ken-Ichi Hirano
Triglyceride deposit cardiomyovasculopathy (TGCV) is a rare and newly identified disease among patients requiring cardiac transplantation. TGCV is characterized by cardiomyocyte steatosis and triglyceride (TG)-deposit atherosclerosis, resulting from the abnormal intracellular metabolism of TG. TGCV is classified into primary and idiopathic types. Primary TGCV carries ultra-rare genetic mutations in the adipose triglyceride lipase (ATGL), a rate-liming enzyme that hydrolyzes intracellular TG in adipose and non-adipose tissues...
November 13, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29146060/clinicopathologic-correlation-of-programmed-death-ligand-1-expression-in-non-small-cell-lung-carcinomas-a-report-from-india
#7
Archana George Vallonthaiel, Prabhat Singh Malik, Varsha Singh, Vinay Kumar, Sunil Kumar, Mehar Chand Sharma, Sandeep Mathur, Sudheer Arava, Randeep Guleria, Deepali Jain
INTRODUCTION: Increased expression of Programmed death ligand-1 (PD-L1) on cancer cells and immune cells predict response to PD-1/PDL1 inhibitors. Data regarding frequency and pattern of PD-L1 expression in NSCLC from India is not available. OBJECTIVES: To analyse PD-L1 expression on tumour cells (TC) and immune cells (IC) and to correlate PD-L1 expression with baseline clinico-pathological characteristics, oncogenic drivers and outcome data. MATERIALS AND METHODS: PD-L1 expression on tumour cells and immune cells was analysed...
December 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/29146051/beta-catenin-and-p53-expression-in-topographic-compartments-of-colorectal-cancer-and-its-prognostic-value-following-surgery
#8
Juan Daniel Prieto, Martina Álvarez, María Isabel Hierro, Isabel García, Luis Vicioso
Colorectal cancer (CRC) is the third most prevalent neoplasm worldwide and the fourth cause of cancer-related death. From Vogelstein's initial model, new molecular knowledge has been incorporated which includes an elevated number of genetic mutations, many of them located in the Wnt pathway, which affect its principle effector: β-catenin. Additionally, it is necessary to keep the heterogeneity of CRCs in mind, both in terms of morphology and biology. The aim of this work is to study the interaction between the Wnt molecular pathway, by means of immunoexpression of β-catenin, in CRC and other molecular mechanisms, such as the p53 pathway, in order to determine the pattern - if one exists - of different immunohistochemical expression of β-catenin and p53 in the superficial and deep tumor components, and lastly, to determine the impact of these markers on prognosis...
December 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/29145122/the-myo-inositol-proton-symporter-iolt1-contributes-to-d-xylose-uptake-in-corynebacterium-glutamicum
#9
Christian Brüsseler, Andreas Radek, Niklas Tenhaef, Karin Krumbach, Stephan Noack, Jan Marienhagen
Corynebacterium glutamicum has been engineered to utilize d-xylose as sole carbon and energy source. Recently, a C. glutamicum strain has been optimized for growth on defined medium containing d-xylose by laboratory evolution, but the mutation(s) attributing to the improved-growth phenotype could not be reliably identified. This study shows that loss of the transcriptional repressor IolR is responsible for the increased growth performance on defined d-xylose medium in one of the isolated mutants. Underlying reason is derepression of the gene for the glucose/myo-inositol permease IolT1 in the absence of IolR, which could be shown to also contribute to d-xylose uptake in C...
November 1, 2017: Bioresource Technology
https://www.readbyqxmd.com/read/29144210/a-new-allele-of-the-kappa-casein-gene-in-local-zebu-cattle-breeds
#10
Tauseef Ahmad, Ashwin Atkulwar, Sameera Farah, Vijendra Singh, Mumtaz Baig
Local zebu cattle breeds in Indian villages are crossbred with exotic breeds at an unprecedented rate without utilising the full potential of genomic technologies. In addition to agriculture produce, livestock, particularly cattle, constitute a vital source of livelihood for farmers in India. Age-old agricultural practices, errant monsoon, and frequent crop failures have resulted in Maharashtra having the highest number of farmer suicides in the country. Local cattle breeds are considered low-yield breeds and thus are primarily used as beasts of burden...
November 16, 2017: Journal of Dairy Research
https://www.readbyqxmd.com/read/29143365/epigenetic-down-regulation-of-sox2-is-an-independent-poor-prognostic-factor-for-hypopharyngeal-cancers
#11
Mehmet Ozgur Avincsal, Naoe Jimbo, Kohei Fujikura, Hirotaka Shinomiya, Naoki Otsuki, Koichi Morimoto, Tatsuya Furukawa, Naruhiko Morita, Ritsuko Maehara, Tomoo Itoh, Ken-Ichi Nibu, Yoh Zen
AIMS: We recently reported that a small subset (7%) of oesophageal squamous cell carcinomas completely lacking SOX2 expression had unique clinicopathological features and a dismal prognosis. The present study aimed to elucidate whether the findings obtained in oesophageal cancers are applicable to hypopharyngeal or oropharyngeal squamous cell carcinomas (HPSCCs or OPSCCs, respectively). METHODS AND RESULTS: The study cohort consisted of consecutive patients with HPSCC (n=130) and OPSCC (n=65) who underwent surgery without preoperative therapy...
November 15, 2017: Histopathology
https://www.readbyqxmd.com/read/29142990/the-chemical-chaperone-pba-reduces-er-stress-and-autophagy-and-increases-collagen-iv-%C3%AE-5-expression-in-cultured-fibroblasts-from-men-with-x-linked-alport-syndrome-and-missense-mutations
#12
Dongmao Wang, Mardhiah Mohammad, Yanyan Wang, Rachel Tan, Lydia S Murray, Sharon Ricardo, Hayat Dagher, Tom van Agtmael, Judy Savige
Introduction: X-linked Alport syndrome (OMIM 301050) is caused by COL4A5 missense variants in 40% of families. This study examined the effects of chemical chaperone treatment (sodium 4-phenylbutyrate) on fibroblast cell lines derived from men with missense mutations. Methods: Dermal fibroblast cultures were established from 2 affected men and 3 normals. Proliferation rates were examined, the collagen IV α5 chain localized with immunostaining, and levels of the intra- and extracellular chains quantitated with an in-house enzyme-linked immunosorbent assay...
July 2017: KI Reports
https://www.readbyqxmd.com/read/29142762/analysis-of-cyp1b1-gene-mutations-in-patients-with-primary-congenital-glaucoma
#13
REVIEW
Leila Chouiter, Sellama Nadifi
Primary congenital glaucoma (PCG) is the most common type of infantile glaucoma, yet it remains a relatively rare disease, because the disease is often transmitted in an autosomal recessive pattern. However, PCG occurs up to 10 times more frequently in certain ethnic and geographical groups where consanguineous relationships are common. The aim of this study was to investigate the distribution of mutations in the cytochrome P450 1B1 gene ( CYP1B1 ) in patients with PCG among different populations around the world from 2011 until May 2016...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142753/long-term-survival-in-a-patient-with-metastatic-squamous-cell-lung-carcinoma-a-case-report
#14
Emiddio Barletta, Piera Federico, Vincenza Tinessa, Domenico Germano, Lucia Cannella, Teresa Pironti, Bruno Daniele
Non-small-cell lung cancer (NSCLC) is the most common malignancy in industrialized countries, with a 5-year survival rate of only ~15%, as the majority of the patients have advanced-stage disease at diagnosis and the treatment options are limited. Squamous cell carcinoma the second most frequent type of NSCLC and is closely associated with cigarette smoking. We herein present the case of a 72-year-old male smoker, diagnosed with stage IV squamous cell lung carcinoma, with a solitary brain metastasis. After the diagnosis, stereotactic radiotherapy was performed on the brain metastasis...
November 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/29142438/molecular-simulation-based-combinatorial-modeling-and-antioxidant-activities-of-zingiberaceae-family-rhizomes
#15
Talambedu Usha, Sushen Pradhan, Arvind Kumar Goyal, Shanmugarajan Dhivya, H P Prashanth Kumar, Manoj Kumar Singh, Neelu Joshi, Bharat Chandra Basistha, K R Siddalinga Murthy, Saravanakumar Selvaraj, Sushil Kumar Middha
Objective: The main aim of this scientific report was to investigate a series of phytochemicals in silico and the pharmacology of four plants found at higher altitude in the ginger family, Zingiberaceae (incl. Costaceae) from North-East India, particularly Sikkim. First, the goal was to determine the biological activities of the four herbs (used under Zingiberaceae family) using antioxidant assays to identify the best species. Second, previously reported compounds in litero were subsequently screened for their anticancerous activities using in silico methods...
October 2017: Pharmacognosy Magazine
https://www.readbyqxmd.com/read/29142125/emergence-of-double-and-triple-gene-reassortant-g1p-8-rotaviruses-possessing-a-ds-1-like-backbone-post-rotavirus-vaccine-introduction-in-malawi
#16
Khuzwayo C Jere, Chrispin Chaguza, Naor Bar-Zeev, Jenna Lowe, Chikondi Peno, Benjamin Kumwenda, Osamu Nakagomi, Jacqueline E Tate, Umesh D Parashar, Robert S Heyderman, Neil French, Nigel A Cunliffe, Iturriza-Gomara Miren
To combat the high burden of rotavirus gastroenteritis, multiple African countries have introduced rotavirus vaccines into their childhood immunisation programmes. Malawi incorporated a G1P[8] rotavirus vaccine (Rotarix™) into its immunisation schedule in 2012. Utilising a surveillance platform of hospitalised rotavirus gastroenteritis cases, we examined the phylodynamics of G1P[8] rotavirus strains that circulated in Malawi before (1998 - 2012) and after (2013 - 2014) vaccine introduction. Analysis of whole genomes obtained through next generation sequencing revealed that all randomly-selected pre-vaccine G1P[8] strains sequenced (n=32) possessed a Wa-like genetic constellation, whereas post-vaccine G1P[8] strains (n=18) had a DS-1-like constellation...
November 15, 2017: Journal of Virology
https://www.readbyqxmd.com/read/29141982/a-partial-loss-of-function-variant-in-akt2-is-associated-with-reduced-insulin-mediated-glucose-uptake-in-multiple-insulin-sensitive-tissues-a-genotype-based-callback-positron-emission-tomography-study
#17
Aino Latva-Rasku, Miikka-Juhani Honka, Alena Stančáková, Heikki A Koistinen, Johanna Kuusisto, Li Guan, Alisa K Manning, Heather Stringham, Anna L Gloyn, Cecilia M Lindgren, Francis S Collins, Karen L Mohlke, Laura J Scott, Tomi Karjalainen, Lauri Nummenmaa, Michael Boehnke, Pirjo Nuutila, Markku Laakso
Rare fully penetrant mutations in AKT2 are an established cause of monogenic disorders of glucose metabolism. Recently, a novel partial loss-of-function AKT2 coding variant (p.Pro50Thr) was identified that is nearly specific to Finns (frequency 1.1%), with the low-frequency allele associated with an increase in fasting plasma insulin level and risk of type 2 diabetes. The effects of p.Pro50Thr on insulin-stimulated glucose uptake (GU) in the whole body and in different tissues have not previously been investigated...
November 15, 2017: Diabetes
https://www.readbyqxmd.com/read/29141854/a-p53-deficiency-gene-signature-predicts-recurrence-risk-of-patients-with-early-stage-lung-adenocarcinoma
#18
Yanding Zhao, Frederick S Varn, Guoshuai Cai, Feifei Xiao, Christopher I Amos, Chao Cheng
BACKGROUND: Lung cancer is associated with the highest mortality rate of all cancer types, and the most common histological subtype of lung cancer is adenocarcinoma. In order to apply more effective therapeutic treatment, molecular markers that are able to predict the recurrence risk of patients with adenocarcinoma are critically needed. Mutations in TP53 tumor suppressor gene have been found in approximately 50% of lung adenocarcinoma cases, but the presence of a TP53 mutation does not always associate with increased mortality...
November 15, 2017: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/29141152/tm-values-and-unfolded-fraction-can-predict-aggregation-rates-for-gcsf-variant-formulations-but-not-under-predominantly-native-conditions
#19
Mathew J Robinson, Paul Matejtschuk, Adrian F Bristow, Paul A Dalby
Protein engineering and formulation optimisation strategies can be taken to minimise protein aggregation in the biopharmaceutical industry. Short-term stability measures such as the mid-point transition temperature (Tm) for global unfolding provide convenient surrogates for longer-term (eg 2-year) degradation kinetics, with which to optimise formulations on practical time-scales. While successful in some cases, their limitations have not been fully evaluated or understood. Tm values are known to correlate with chemical degradation kinetics for wild-type granulocyte colony stimulating factor (GCSF) at pH 4-5...
November 15, 2017: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/29141006/the-mitochondrial-genome-of-muga-silkworm-antheraea-assamensis-and-its-comparative-analysis-with-other-lepidopteran-insects
#20
Deepika Singh, Debajyoti Kabiraj, Pragya Sharma, Hasnahana Chetia, Ponnala Vimal Mosahari, Kartik Neog, Utpal Bora
Muga (Antheraea assamensis) is an economically important silkmoth endemic to the states of Assam and Meghalaya in India and is the producer of the strongest known commercial silk. However, there is a scarcity of genomic and proteomic data for understanding the organism at a molecular level. Our present study is on decoding the complete mitochondrial genome (mitogenome) of A. assamensis using next generation sequencing technology and comparing it with other available lepidopteran mitogenomes. Mitogenome of A...
2017: PloS One
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